Proteins
On this page 2 sections
Disorders of Protein Folding
Misfolded proteins may lose normal function, accumulate within cells or form abnormal extracellular deposits.
Examples
| Disorder | Abnormality |
|---|---|
| Alzheimer disease | Amyloid-β accumulation and abnormal tau pathology |
| Parkinson disease | α-Synuclein accumulation |
| Prion diseases | Abnormally folded prion protein |
| Cystic fibrosis | Certain CFTR variants undergo abnormal folding and degradation |
| α₁-Antitrypsin deficiency | Mutant protein may accumulate within hepatocytes |
Remember: Protein misfolding may cause toxicity through accumulation or loss of normal protein function.